title: T-lymphocytes are directly involved in the clinical expression of migratory circinate erythema in epidermolysis bullosa simplex patients.
abstract: Epidermolysis bullosa simplex with migratory circinate erythema (EBS-MCE) is a rare EBS subtype characterised by migratory blistering lesions that resolve with brownish pigmentation. It is caused by a recurrent readthrough mutation, c.1649delG, in the tail of keratin 5. Here, we report a child with EBS-MCE and investigated the immunologic mechanisms underlying the migratory lesions in this patient. A skin biopsy from the patient from an active border of an erythematous lesion was used for the immunohistochemical characterisation of the inflammatory infiltrate and for TUNEL assay to detect apoptotic cells. We found abundant CD4+ and CD8+ T lymphocytes infiltrating the papillary dermis and lining the dermal-epidermal junction. A number of these cells expressed the activation marker CD69. CD83+ dendritic cells were present both in the epidermis and papillary dermis. Finally, TUNEL staining showed apoptosis of basal and suprabasal keratinocytes. These findings suggest a critical role of the cellular immunity in determining the EBS-MCE phenotype.
authors.affiliation: Laboratory of Molecular and Cell Biology, Instituto Dermopatico dell'Immacolata-IRCCS Via dei Monti di Creta, 104, IT-00167 Rome, Italy. d.castiglia@idi.it.
authors.forename: Daniele
authors.initials: D
authors.lastname: Castiglia
authors.forename: May
authors.initials: M
authors.lastname: El Hachem
authors.forename: Andrea
authors.initials: A
authors.lastname: Diociaiuti
authors.forename: Teresa
authors.initials: T
authors.lastname: Carbone
authors.forename: Naomi
authors.initials: N
authors.lastname: De Luca
authors.forename: Monica
authors.initials: M
authors.lastname: Pascucci
authors.forename: Giovanna
authors.initials: G
authors.lastname: Zambruno
authors.forename: Andrea
authors.initials: A
authors.lastname: Cavani
mesh_terms: D015703:Antigens, CD / Q000032:analysis; D000945:Antigens, Differentiation, T-Lymphocyte / Q000032:analysis; D017209:Apoptosis; D015415:Biomarkers / Q000032:analysis; D001706:Biopsy; D015496:CD4-Positive T-Lymphocytes / Q000276:immunology* / Q000473:pathology; D018414:CD8-Positive T-Lymphocytes / Q000276:immunology* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D016110:Epidermolysis Bullosa Simplex / Q000175:diagnosis / Q000235:genetics / Q000276:immunology*; D004890:Erythema / Q000175:diagnosis / Q000235:genetics / Q000276:immunology*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007111:Immunity, Cellular; D007136:Immunoglobulins / Q000032:analysis; D007150:Immunohistochemistry; D020287:In Situ Nick-End Labeling; D007231:Infant, Newborn; D053555:Keratin-5 / Q000235:genetics; D037181:Lectins, C-Type / Q000032:analysis; D008562:Membrane Glycoproteins / Q000032:analysis; D009154:Mutation; D010641:Phenotype; D012867:Skin / Q000276:immunology / Q000473:pathology; D000097802:CD83 Antigen; D000099192:CD69 Antigens
chemical_list: D015703:Antigens, CD; D000945:Antigens, Differentiation, T-Lymphocyte; D015415:Biomarkers; D007136:Immunoglobulins; D053555:Keratin-5; D037181:Lectins, C-Type; D008562:Membrane Glycoproteins; D000097802:CD83 Antigen; D000099192:CD69 Antigens; C503940:KRT5 protein, human